Incidental Mutation 'R9603:Mtus1'
| ID |
723793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R9603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41536795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 307
(V307E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059115]
[ENSMUST00000118835]
[ENSMUST00000145860]
[ENSMUST00000155055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059115
AA Change: V307E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V307E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
coiled coil region
|
876 |
938 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1021 |
1156 |
3e-7 |
SMART |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118835
AA Change: V307E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V307E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
coiled coil region
|
876 |
938 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1021 |
1156 |
3e-7 |
SMART |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145860
AA Change: V307E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: V307E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit spontaneous heart hypertrophy and SLE-like lymphoproliferative disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,225,911 (GRCm39) |
N317I |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,147 (GRCm39) |
S590C |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,459,526 (GRCm39) |
E103K |
probably benign |
Het |
| Cars1 |
A |
G |
7: 143,112,929 (GRCm39) |
M766T |
possibly damaging |
Het |
| Cavin4 |
T |
C |
4: 48,671,999 (GRCm39) |
V148A |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,830,643 (GRCm39) |
V359A |
probably damaging |
Het |
| Cdkn2d |
T |
C |
9: 21,202,139 (GRCm39) |
D36G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,292,510 (GRCm39) |
D3224E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,509,006 (GRCm39) |
M1V |
probably null |
Het |
| Eif1ad7 |
T |
G |
12: 88,238,727 (GRCm39) |
N11T |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,802,563 (GRCm39) |
D1497G |
probably damaging |
Het |
| Foxs1 |
A |
C |
2: 152,774,281 (GRCm39) |
C257W |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,496,260 (GRCm39) |
P341L |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,678,771 (GRCm39) |
G164S |
probably benign |
Het |
| Hrh3 |
C |
A |
2: 179,742,444 (GRCm39) |
E395* |
probably null |
Het |
| Hsf4 |
G |
A |
8: 105,999,435 (GRCm39) |
V318M |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,949 (GRCm39) |
E65G |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,289 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,915 (GRCm39) |
N348S |
possibly damaging |
Het |
| Krr1 |
T |
C |
10: 111,812,672 (GRCm39) |
I94T |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,410 (GRCm39) |
D724G |
probably damaging |
Het |
| Mn1 |
C |
A |
5: 111,566,393 (GRCm39) |
P121Q |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,015 (GRCm39) |
L10* |
probably null |
Het |
| Muc20 |
A |
G |
16: 32,615,155 (GRCm39) |
L74P |
probably damaging |
Het |
| Nnat |
A |
G |
2: 157,403,701 (GRCm39) |
*113W |
probably null |
Het |
| Or13a25 |
G |
T |
7: 140,247,794 (GRCm39) |
C191F |
probably damaging |
Het |
| Or2f1b |
C |
T |
6: 42,739,672 (GRCm39) |
Q229* |
probably null |
Het |
| Or4f14 |
A |
G |
2: 111,743,128 (GRCm39) |
V49A |
possibly damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,103 (GRCm39) |
Y149* |
probably null |
Het |
| Pkm |
T |
A |
9: 59,577,831 (GRCm39) |
V216E |
probably damaging |
Het |
| Pla2g12a |
G |
A |
3: 129,674,900 (GRCm39) |
V19I |
unknown |
Het |
| Pramel27 |
T |
C |
4: 143,578,267 (GRCm39) |
S176P |
|
Het |
| Rai14 |
G |
A |
15: 10,595,116 (GRCm39) |
Q136* |
probably null |
Het |
| Rnf150 |
T |
A |
8: 83,717,208 (GRCm39) |
N238K |
possibly damaging |
Het |
| Rrp1 |
A |
G |
10: 78,240,757 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
A |
17: 3,246,070 (GRCm39) |
L720M |
possibly damaging |
Het |
| Slamf1 |
G |
T |
1: 171,625,771 (GRCm39) |
V316L |
probably damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a20 |
T |
C |
9: 108,549,675 (GRCm39) |
F86L |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,217,714 (GRCm39) |
S131A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,958,649 (GRCm39) |
I41T |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,198 (GRCm39) |
L94Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,811 (GRCm39) |
C819R |
probably damaging |
Het |
| St6galnac3 |
T |
A |
3: 153,117,177 (GRCm39) |
D182V |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,584,789 (GRCm39) |
T549S |
probably benign |
Het |
| Vim |
A |
T |
2: 13,579,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,899,837 (GRCm39) |
R689I |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,375,255 (GRCm39) |
E905V |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
|
| Other mutations in Mtus1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Mtus1
|
APN |
8 |
41,537,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01377:Mtus1
|
APN |
8 |
41,536,172 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01472:Mtus1
|
APN |
8 |
41,455,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01995:Mtus1
|
APN |
8 |
41,537,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Mtus1
|
APN |
8 |
41,446,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Mtus1
|
APN |
8 |
41,536,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02571:Mtus1
|
APN |
8 |
41,536,519 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02936:Mtus1
|
APN |
8 |
41,452,554 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0116:Mtus1
|
UTSW |
8 |
41,451,514 (GRCm39) |
unclassified |
probably benign |
|
|
R0139:Mtus1
|
UTSW |
8 |
41,469,233 (GRCm39) |
splice site |
probably benign |
|
|
R0178:Mtus1
|
UTSW |
8 |
41,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0179:Mtus1
|
UTSW |
8 |
41,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0220:Mtus1
|
UTSW |
8 |
41,447,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Mtus1
|
UTSW |
8 |
41,537,432 (GRCm39) |
missense |
probably benign |
|
|
R0355:Mtus1
|
UTSW |
8 |
41,535,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0357:Mtus1
|
UTSW |
8 |
41,536,563 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0464:Mtus1
|
UTSW |
8 |
41,455,511 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0681:Mtus1
|
UTSW |
8 |
41,446,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Mtus1
|
UTSW |
8 |
41,503,063 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1570:Mtus1
|
UTSW |
8 |
41,529,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Mtus1
|
UTSW |
8 |
41,535,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Mtus1
|
UTSW |
8 |
41,468,446 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1869:Mtus1
|
UTSW |
8 |
41,529,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1888:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1888:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1891:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1894:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2063:Mtus1
|
UTSW |
8 |
41,535,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Mtus1
|
UTSW |
8 |
41,475,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Mtus1
|
UTSW |
8 |
41,475,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Mtus1
|
UTSW |
8 |
41,535,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Mtus1
|
UTSW |
8 |
41,501,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Mtus1
|
UTSW |
8 |
41,536,166 (GRCm39) |
missense |
probably benign |
|
|
R4096:Mtus1
|
UTSW |
8 |
41,537,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4831:Mtus1
|
UTSW |
8 |
41,536,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Mtus1
|
UTSW |
8 |
41,537,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4916:Mtus1
|
UTSW |
8 |
41,453,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Mtus1
|
UTSW |
8 |
41,494,515 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4988:Mtus1
|
UTSW |
8 |
41,537,578 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5133:Mtus1
|
UTSW |
8 |
41,536,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5468:Mtus1
|
UTSW |
8 |
41,537,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5598:Mtus1
|
UTSW |
8 |
41,475,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Mtus1
|
UTSW |
8 |
41,535,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Mtus1
|
UTSW |
8 |
41,529,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5900:Mtus1
|
UTSW |
8 |
41,536,534 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5943:Mtus1
|
UTSW |
8 |
41,537,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6019:Mtus1
|
UTSW |
8 |
41,536,077 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6125:Mtus1
|
UTSW |
8 |
41,537,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6197:Mtus1
|
UTSW |
8 |
41,537,074 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6488:Mtus1
|
UTSW |
8 |
41,494,545 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6869:Mtus1
|
UTSW |
8 |
41,535,691 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7117:Mtus1
|
UTSW |
8 |
41,536,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7126:Mtus1
|
UTSW |
8 |
41,468,439 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7213:Mtus1
|
UTSW |
8 |
41,537,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7308:Mtus1
|
UTSW |
8 |
41,535,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7424:Mtus1
|
UTSW |
8 |
41,475,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Mtus1
|
UTSW |
8 |
41,537,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7485:Mtus1
|
UTSW |
8 |
41,537,590 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7660:Mtus1
|
UTSW |
8 |
41,469,248 (GRCm39) |
missense |
probably benign |
|
|
R7699:Mtus1
|
UTSW |
8 |
41,537,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7700:Mtus1
|
UTSW |
8 |
41,537,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7709:Mtus1
|
UTSW |
8 |
41,507,687 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7791:Mtus1
|
UTSW |
8 |
41,536,417 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8196:Mtus1
|
UTSW |
8 |
41,509,689 (GRCm39) |
missense |
probably benign |
|
|
R8463:Mtus1
|
UTSW |
8 |
41,536,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8724:Mtus1
|
UTSW |
8 |
41,451,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9047:Mtus1
|
UTSW |
8 |
41,536,760 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9092:Mtus1
|
UTSW |
8 |
41,455,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Mtus1
|
UTSW |
8 |
41,536,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9313:Mtus1
|
UTSW |
8 |
41,535,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9329:Mtus1
|
UTSW |
8 |
41,537,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Mtus1
|
UTSW |
8 |
41,536,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCATTGTCGTGGGAATCG -3'
(R):5'- GATGCAAACTGACAGTCCAGAC -3'
Sequencing Primer
(F):5'- ATCGATGTGTGGGTCTTCAGTCAC -3'
(R):5'- ACGTTGGAGTTCAGGGTCAGAATTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation